Intra-abdominal Desmoplastic Small Cell Tumor Research Articles

The role of cytogenetics in the classification of soft tissue tumours.

Soft tissue tumours represent a heterogeneous group of mesenchymal lesions, and their classification is the subject of continuous debate. Chromosome analysis, molecular cytogenetics and molecular assays may become increasingly useful in diagnosis, and this review summarises advances in the cytogenetic characterisation and classification of soft tissue tumours. Among the group of fibrous lesions, superficial fibromatosis exhibits trisomy 8. This genomic change is also observed in desmoid fibromatosis in association with trisomy 20. Trisomy 11 is the most frequently observed chromosomal aberration in congenital fibrosarcoma. Dermatofibrosarcoma protuberans and giant cell fibroblastoma share a translocation t(17;22), which supports the concept of the existence of a common differentiation pathway. Adipose tissue tumours is the group in which integration of genetics and pathology has been most fruitful. Ordinary lipomas cytogenetically show an abnormal karyotype in about half the cases. Genomic changes of the 11q13 region are observed in hibernoma. Lipoblastoma exhibits a specific 8q rearrangement in 8q11-q13. Loss of material from the region 16q13-qter and 13q deletions are observed in spindle cell/pleomorphic lipomas. The well-differentiated liposarcoma/atypical lipoma group is characterised karyotypically by the presence of one extra ring and/or extra giant chromosome marker. Myxoid and round cell liposarcoma share the same characteristic chromosome change: t(12;16)(q13;p11) in most cases. In the group of smooth muscle lesions most data are derived from uterine leiomyomas, which can be subclassified cytogenetically into seven different types. Half of all leiomyomas are chromosomally normal; the other half have one of six possible consistent chromosome changes. Alveolar rhabdomyosarcoma is characterised cytogenetically by two variant translocations t(2;13)(q35;q14) and t(1;13)(p36;q14). Among tenosynovial tumours, the localised type of giant cell tumour of tendon sheath exhibits two different karyotypic changes. One involves 1p11 in a translocation with chromosome 2 or with another chromosome. A second type involves 16q24. Synovial sarcoma is characterised cytogenetically by a translocation occurring between chromosome 18 and presumably two adjacent loci on the X chromosome. In neural tumours, abnormalities of chromosome 22 have been reported in benign schwannomas and perineuriomas. Malignant peripheral nerve sheath tumours exist in two main forms: sporadic and associated with the NF-1 syndrome. Karyotypes are very complex, but chromosomes 17q and 22q are very often involved. Clear cell sarcoma is characterised cytogenetically and molecularly by a translocation t(12;22)(q13;q12). The Ewing's sarcoma/peripheral neuroectodermal tumour category shows a central karyotypic anomaly represented by the translocation t(11;22). The two variants t(21;22) and t(7;22) are found in some cases. Among cartilaginous lesion, the most frequently described anomaly is the t(9;22)(q22;q12) in extraskeletal myxoid chondrosarcoma. Intra-abdominal desmoplastic small round cell tumour is characterised by a t(11;22)(p13;q12).

Intra-abdominal desmoplastic small cell tumors:report of two cases

Two young adults that presented with intra-abdominal desmoplastic small cell tumors (DSCT) without any evidence of a primary site are described. Both cases share the clinical characteristic features of this rare tumor which include predominant intra-abdominal location as initial presentation, nesting pattern of growth, intense desmoplastic reaction, immunohistochemical reactivity for epithelial, neural and muscle markers, and highly aggressive behavior. Aggressive chemotherapy with a cisplatin-containing regimen was the main therapy to our patients. Up to the present, both cases are alive with disease. The survival is 18 and 15 months from the initial diagnosis, respectively. Interestingly, one of the cases encountered an episode of cerebral infarction at the territory of the left middle cerebral artery 12 days after the first cycle of chemotherapy. This is a previously unrecognized manifestation for this tumor type. This causal relationship between chemotherapy and an acute vascular event is the most likely explanation for our patient's stroke.

Intra-Abdominal Desmoplastic Small Round Cell Tumor: Case Report and Brief Review of the Literature

Intra-Abdominal Desmoplastic Small Round Cell Tumor: Case Report and Brief Review of the Literature

CT findings of regression in intraabdominal desmoplastic small-cell tumor

We report the computed tomographic (CT) findings in a patient with intraabdominal desmoplastic small-cell tumor before and after 10 weeks of chemotherapy. This tumor is a rare, frequently fatal neoplasm of the peritoneum, seen predominantly in young males. Initial CT demonstrated large intraperitoneal masses, hepatic metastases, retroperitoneal and right axillary lymphadenopathy, ascites, and pleural effusion. Follow-up CT showed marked decrease of the main tumor bulk and complete regression in the axillary nodes.

Recent developments in soft tissue tumors.

This article reviews the clinicopathological features of several recently described soft tissue tumours, namely ossifying fibromyxoid tumour, angiomyofibroblastoma, epithelioid angiosarcoma, retiform haemangioendothelioma, intra-abdominal desmoplastic small cell tumour, spindle cell liposarcoma and low grade fibromyxoid sarcoma. Conceptual changes are also discussed. These include the relationship between Ewing's sarcoma and peripheral primitive neuroectodermal tumour, the proposed use of the term atypical lipoma for a subset of well differentiated liposarcomas, and the occurrence at a wide variety of sites of inflammatory myofibroblastic lesions of uncertain biological potential. In addition, advances in the study of soft tissue lesions at the molecular and cytogenetic levels are outlined, with particular emphasis on the recent identification of tumour-specific karyotypic abnormalities in a wide variety of sarcomas.

A Diagnostic Clue and Potential Pitfall

We report the light microscopic and immunohistochemical features of vascular proliferations associated with 26 extracranial neural and neuroendocrine neoplasms including esthesioneuroblastoma, neuroblastoma/ganglioneuroblastoma, the primitive neural component of immature teratoma, mediastinal teratoma, primitive neuroectodermal tumor, intra-abdominal desmoplastic small cell tumor, Merkel cell carcinoma of the skin, and thyroid medullary carcinoma. These vascular proliferations were similar to those associated with high-grade glial neoplasms and were characterized by tufts of vessels with a glomeruloid configuration or by long cords of vessels. Immunohistochemical evaluation documented the presence of endothelial cells, perithelial cells, and basement membrane components within the foci of proliferating vessels. We propose that these vascular proliferations represent a characteristic feature of the neuroendocrine/neural neoplastic phenotype and that they possibly arise as the result of angiogenic factors produced by the neoplastic cells. The presence of these distinctive vascular lesions in the stroma of a poorly differentiated neoplasm should alert the pathologist to the possibility of the neoplasm being of a neural or neuroendocrine nature.

Urological aspects of intra-abdominal desmoplastic small round cell tumor of childhood: A preliminary report: J.C. Carroll, G.T. Klauber, C.S. Kretschmar, et al. J Urol 151:172–173, (January), 1994

Urological aspects of intra-abdominal desmoplastic small round cell tumor of childhood: A preliminary report: J.C. Carroll, G.T. Klauber, C.S. Kretschmar, et al. J Urol 151:172–173, (January), 1994

Desmin and neural marker expression in mesothelial cells and mesotheliomas

The distribution of keratin, vimentin, desmin, muscular actin, S100, specific neuron enolase, and chromogranin was studied by immunoperoxidase staining in mesothelium, malignant mesotheliomas, and pulmonary carcinomas. The mesothelial cells were positive for keratin and vimentin on all smears of pleural and ascitic effusions; most of them were also positive for desmin but rarely for enolase and S100. None was positive for muscular actin. Sixteen malignant mesotheliomas expressed vimentin and keratin; six were also positive for desmin, three for desmin and neural markers, and five for neural markers. In comparison, none of the pulmonary carcinomas was positive for these markers. Mesothelial cells are able to express markers of divergent differentiation. Mesotheliomas also have such markers that are present in other malignant tumors and, in particular, in intra-abdominal desmoplastic small cell tumors with divergent differentiation. This entity and mesotheliomas probably originate from the same cell. Moreover, desmin, found in 56% of malignant mesotheliomas but absent in pulmonary carcinomas, may be useful in the differential diagnosis of these tumors.

Intraabdominal desmoplastic small-cell tumor with divergent differentiation: clinicopathological findings and DNA ploidy.

Five cases of intraabdominal small-cell tumor with divergent differentiation are reported. All patients were of male sex. They were 10, 15, 20, 21, and 30 years of age at time of diagnosis, respectively. By light microscopy, the tumors consisted of small cells arranged in groups, nests, and clusters separated by a collagen-rich desmoplastic stroma. Immunohistochemical studies revealed the coexpression of mesenchymal, epithelial, and neural markers. Notably, all tumors coexpressed vimentin, cytokeratin, and desmin, the latter in a remarkable paranuclear dot-like fashion. In contrast to other authors, we did not find chromogranin. DNA image cytometry on four cases demonstrated two diploid and two aneuploid (hyperdiploid) cases. No correlation was found between ploidy and prognosis. One patient died from disease, another died from veno-occlusive disease after bone marrow transplantation, and the remaining patients are alive, but have progressive intraabdominal disease. Thus, our findings support the poor prognosis in this type of tumor.

Urological Aspects of Intra-Abdominal Desmoplastic Small Round Cell Tumor of Childhood: A Preliminary Report

To our knowledge intra-abdominal desmoplastic round cell tumor has not previously been described in the pediatric urological literature. This lesion has only recently been recognized as a clinicopathological entity with predilection for adolescent boys. We report on 2 patients who presented with urological symptoms and a large abdominal or pelvic tumor that was biopsied at exploratory laparotomy. Complete surgical excision was impossible in both patients, who subsequently underwent multiagent chemotherapy. Histological and immunohistochemical staining are distinctive in this condition. The tumor is associated with a poor prognosis, despite multidisciplinary, multimodal therapy.

Intra-abdominal desmoplastic small cell tumor: A light microscopic, immunocytochemical, ultrastructural, and flow cytometric study

The clinical, microscopic, and immunohistochemical features of 22 intra-abdominal desmoplastic small cell tumors are presented. Ten tumors also were studied by electron microscopy, and flow cytometry was performed in 11 cases. Nineteen patients were male and three were female; their ages ranged from 17 to 38 years (mean, 27 years). With the exception of one case, which arose in the scrotum, all the tumors originated within the abdomen or pelvis and multiple peritoneal nodules were typical. Five tumors also involved the retroperitoneum. The study demonstrates that the range of histology these tumors can display is broader than has been realized previously. The immunohistochemical and ultrastructural findings show evidence for epithelial, mesenchymal, and neuroendocrine phenotypes, raising the possibility that the tumors may be blastomas. Nine patients died of widespread metastases 8 to 50 months (mean, 25 months) from the time of diagnosis, and five were alive with known evidence of disease. One patient had no evidence of recurrence, but the follow-up of the case was only 10 months.

Divergent differentiation in small round‐cell tumours of the soft tissues with neural features—an analysis of 10 cases

A series of 10 small round-cell tumours, having in common evidence of neural differentiation, were investigated by immunohistochemistry and electronmicroscopy. In seven, evidence of divergent muscle and/or epithelial differentiation was found. This phenomenon thus appears more common than previously appreciated and suggests that there may be a continuous and overlapping phenotypic spectrum from Ewing's tumour of soft tissue to intra-abdominal desmoplastic small cell tumour.

Translocation (11;22)(p13;q12): Primary change in intra‐abdominal desmoplastic small round cell tumor

We present the cytogenetic findings in a case of a newly described tumor of childhood, intra-abdominal desmoplastic small round cell tumor (IADSRCT). The karyotype demonstrated a single chromosomal translocation, (11;22)(p13;q12).

Ovarian involvement by the intra-abdominal desmoplastic small round cell tumor with divergent differentiation: A report of three cases

Three girls, one 14 and two 15 years of age, with the recently described neoplasm that has been designated “intra-abdominal desmoplastic small round cell tumor with divergent differentiation,” and ovarian involvement at presentation are described. In two cases the ovarian tumor was initially thought to be the primary neoplasm. In all cases there was extensive extraovarian tumor at the time of presentation. The ovarian involvement was bilateral in two cases and unilateral in the third. Microscopic examination showed prominent nodular growth within the ovaries. The tumors were characterized predominantly by nests of small cells with hyperchromatic nuclei and scant cytoplasm separated by a prominent desmoplastic stroma. A few tubules containing mucinous secretion were present in one case. On immunohistochemical staining many of the tumor cells stained positively for cytokeratin, epithelial membrane antigen, desmin, and vimentin. Staining for neuron-specific enolase was present in two cases but was conspicuous in only one of them. Leu-7 was expressed by the tumor cells in two cases, and S-100 protein by one, giving further support to the possiblity of neuroectodermal differentiation within some of these neoplasms. The two cases studied by electron microscopy both showed frequent intercellular junctions, basal lamina, cytoplasmic filaments, and sparse, small dense granules of either neuroendocrine or lysosomal type. Paranuclear aggregates of filaments were found in one case and cellular processes were prominent in the other case. The differential diagnosis in these cases was extensive and included a number of small cell tumors that may involve the ovary, either primarily or secondarily, in young females. The desmoplastic small round cell tumor should be considered in such cases when the appearances on routine examination are consistent with the diagnosis, and appropriate immunohistochemical stains should be performed to confirm the diagnosis.